Incidental Mutation 'R5464:Uqcrb'
ID 501072
Institutional Source Beutler Lab
Gene Symbol Uqcrb
Ensembl Gene ENSMUSG00000021520
Gene Name ubiquinol-cytochrome c reductase binding protein
Synonyms QP-C, 2210415M14Rik
MMRRC Submission 042850-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5464 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 67048681-67053442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67048889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 87 (D87G)
Ref Sequence ENSEMBL: ENSMUSP00000021993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021993] [ENSMUST00000099412] [ENSMUST00000168767]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021993
AA Change: D87G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021993
Gene: ENSMUSG00000021520
AA Change: D87G

DomainStartEndE-ValueType
Pfam:UCR_14kD 8 106 1.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099412
SMART Domains Protein: ENSMUSP00000133648
Gene: ENSMUSG00000074826

DomainStartEndE-ValueType
Pfam:RAM 9 89 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168767
SMART Domains Protein: ENSMUSP00000133647
Gene: ENSMUSG00000074826

DomainStartEndE-ValueType
Pfam:RAM 10 87 5.5e-24 PFAM
low complexity region 89 103 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174606
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Acsl1 T A 8: 46,958,775 (GRCm39) D95E probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts16 T A 13: 70,909,868 (GRCm39) H895L probably benign Het
Alox12e T C 11: 70,208,505 (GRCm39) Y483C probably damaging Het
Atp13a2 T A 4: 140,733,381 (GRCm39) F952I probably damaging Het
Crot T G 5: 9,033,690 (GRCm39) probably null Het
Dnaja1 T A 4: 40,724,133 (GRCm39) M98K probably benign Het
Eps8 C T 6: 137,504,473 (GRCm39) G87R probably damaging Het
Flg2 C A 3: 93,109,277 (GRCm39) T435K possibly damaging Het
Gpatch4 T C 3: 87,962,062 (GRCm39) probably null Het
Heatr1 T A 13: 12,448,524 (GRCm39) M1795K probably benign Het
Ift52 T C 2: 162,871,735 (GRCm39) V189A probably benign Het
Kif21a T A 15: 90,878,058 (GRCm39) D250V probably damaging Het
Lrrc66 T C 5: 73,765,622 (GRCm39) T474A probably benign Het
Mcub T C 3: 129,709,365 (GRCm39) E316G probably benign Het
Mettl15 C T 2: 109,021,967 (GRCm39) V113I probably benign Het
Mroh8 T A 2: 157,063,150 (GRCm39) I824F probably damaging Het
Mrpl19 A G 6: 81,938,992 (GRCm39) M270T probably damaging Het
Naa12 C T 18: 80,255,138 (GRCm39) A144V probably damaging Het
Or10d4 A T 9: 39,581,066 (GRCm39) T238S probably damaging Het
Or4ac1-ps1 T C 2: 88,370,599 (GRCm39) Y58C probably null Het
Or51a25 A G 7: 102,373,124 (GRCm39) V191A possibly damaging Het
Or51a39 T C 7: 102,362,889 (GRCm39) T244A probably benign Het
Or51a43 C A 7: 103,717,674 (GRCm39) R188L possibly damaging Het
Or51f5 A G 7: 102,424,640 (GRCm39) K303R probably benign Het
Or52a24 T A 7: 103,381,396 (GRCm39) W88R probably damaging Het
Or5ak23 AAGTCTGGAGTC AAGTC 2: 85,245,057 (GRCm39) probably null Het
Or6x1 T C 9: 40,099,080 (GRCm39) I223T probably damaging Het
Pacs1 T C 19: 5,197,235 (GRCm39) M430V probably benign Het
Piezo2 A G 18: 63,278,176 (GRCm39) S243P probably damaging Het
Ppp1r36 A T 12: 76,474,852 (GRCm39) probably null Het
Prdm16 T A 4: 154,430,601 (GRCm39) probably null Het
Prss36 A T 7: 127,533,405 (GRCm39) W97R probably damaging Het
Psmg4 A T 13: 34,362,047 (GRCm39) I112F probably damaging Het
Ptpru C T 4: 131,499,868 (GRCm39) G1259R probably damaging Het
Rsph4a T C 10: 33,785,337 (GRCm39) I416T possibly damaging Het
Scn2a C T 2: 65,532,100 (GRCm39) R571C probably damaging Het
Selenbp1 A G 3: 94,851,727 (GRCm39) M423V probably benign Het
Serpina3i G A 12: 104,234,751 (GRCm39) A361T possibly damaging Het
Serpinb3c A T 1: 107,199,434 (GRCm39) D362E probably damaging Het
Sf3a3 T C 4: 124,622,033 (GRCm39) probably null Het
Sgcg A G 14: 61,474,304 (GRCm39) V113A possibly damaging Het
Slc3a2 T C 19: 8,691,008 (GRCm39) K74R probably damaging Het
Smco1 T A 16: 32,092,694 (GRCm39) W122R probably damaging Het
Snx19 A G 9: 30,339,269 (GRCm39) K136E possibly damaging Het
Trim32 A G 4: 65,532,625 (GRCm39) N394S probably damaging Het
Wipf3 T C 6: 54,462,308 (GRCm39) S173P possibly damaging Het
Zfp473 T C 7: 44,382,062 (GRCm39) E756G probably damaging Het
Other mutations in Uqcrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Uqcrb APN 13 67,049,459 (GRCm39) unclassified probably benign
IGL01943:Uqcrb APN 13 67,050,827 (GRCm39) splice site probably null
IGL02323:Uqcrb APN 13 67,050,874 (GRCm39) unclassified probably benign
R4656:Uqcrb UTSW 13 67,049,603 (GRCm39) missense probably benign 0.10
R6841:Uqcrb UTSW 13 67,048,827 (GRCm39) unclassified probably benign
R8410:Uqcrb UTSW 13 67,048,850 (GRCm39) missense unknown
R9008:Uqcrb UTSW 13 67,053,363 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGACAGTAGGCGTTTGAATTG -3'
(R):5'- CAAGCTTATAGGCATTGTACACC -3'

Sequencing Primer
(F):5'- GACAGTAGGCGTTTGAATTGAATTC -3'
(R):5'- AGCTTATAGGCATTGTACACCTTCTC -3'
Posted On 2017-12-01